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12篇 您的检索式:作者名="Gimelli S"
    题名 作者 年代 出处 被引量
1Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism显示文摘Masri A Gimelli S Hamamy H 2014Am J Med Genet A2014,164,5:1
2Recurrent microdeletion at 17q12 as a cause of Mayer-Rokita- nsky-Kuster-Hauser(MRKH) syndrome: two case repo- rts 显示文摘Bernardini L Gimelli S Gervasini C 2009Orphanet Journal of Rare Diseases2009,4,:1
3De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features 显示文摘Makrythanasis P Moix I Gimelli S 2010Clin Genet2010,78,2:1
4A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation显示文摘Pramparo T de Gregori M Gimelli S 2008Am J Med Genet A2008,146,13:1
5CENP-G in neocentromeres and inactive centromeres.显示文摘Gimelli G Zuffardi O Giglio S 0,,:1
6Identification and molec- ular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis显示文摘Gimelli G Gimelli S Dimasi N 2006European Jour- nal of Human Genetics2006,,15:1
7How I do it: preferen tial use of the right external jugular vein for tunneled catheter placement显示文摘Yevzlin A S Chan M Gimelli G 2008Semin Dial2008,21,2:1
8De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features显示文摘Makrythanasis P Moix I Gimelli S 2010Clin Genet2010,78,2:1
9A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogeneties, molecular, and methylation studies 显示文摘Gimelli G Giorda R Beri S 2006Am J Med Genet A2006,140,1:1
10Recurrent mi- crodeletion at 17q12 as a cause of Mayer-Rokitansky- Kuster-Hauser (MRKH) syndrome: two case reports 显示文摘Bernardini L Gimelli S Gervasini C 2009Orphanet J Rare Dis2009,4,9:1
11Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects显示文摘Giglio S Graw SL Gimelli G Pirola B Varone P Voullaire L 2000Circulation2000,102,4:1
12Identification and molecular modeling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis显示文摘Gimelli G Gimelli S Dimasi N 0,,1:1
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